TTN c.9749T>G ;(p.V3250G)

Variant ID: 2-179629493-A-C

NM_001267550.1(TTN):c.9749T>G;(p.V3250G)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: TTN: 9749T>G; Val3250Gly
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



Molecular investigation by whole exome sequencing revealed a high proportion of pathogenic variants among Thai victims of sudden unexpected death syndrome.

Plos One
Suktitipat, Bhoom B; Sathirareuangchai, Sakda S; Roothumnong, Ekkapong E; Thongnoppakhun, Wanna W; Wangkiratikant, Purin P; Vorasan, Nutchavadee N; Krittayaphong, Rungroj R; Pithukpakorn, Manop M; Boonyapisit, Warangkna W
Publication Date: 2017

Variant appearance in text: TTN: Val3250Gly; rs55634230
PubMed Link: 28704380
Variant Present in the following documents:
  • Main text
  • pone.0180056.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: TTN: 9749T>G; Val3250Gly
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page